abnormality of skin morphology Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any morphological abnormality of the skin. (Human Phenotype Ontology, HP_0011121)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0011121
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Genes

104 genes associated with the abnormality of skin morphology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.54674
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 2.14268
FANCA Fanconi anemia, complementation group A 2.1112
IRF4 interferon regulatory factor 4 2.09775
OCA2 oculocutaneous albinism II 1.67707
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 1.66652
SLC44A4 solute carrier family 44, member 4 1.5645
CTXN2 cortexin 2 1.44457
ZNF276 zinc finger protein 276 1.41997
DPEP1 dipeptidase 1 (renal) 1.39942
TYR tyrosinase 1.39333
SPATA33 spermatogenesis associated 33 1.37153
SPIRE2 spire-type actin nucleation factor 2 1.19125
CDK10 cyclin-dependent kinase 10 1.11584
BTNL2 butyrophilin-like 2 1.07413
CHMP1A charged multivesicular body protein 1A 0.948523
DUT deoxyuridine triphosphatase 0.943038
PRDM7 PR domain containing 7 0.824011
LPP LIM domain containing preferred translocation partner in lipoma 0.788901
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 0.776398
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 0.775277
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.717991
ATXN2 ataxin 2 0.676552
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.648479
ANKRD11 ankyrin repeat domain 11 0.624619
C1QTNF6 C1q and tumor necrosis factor related protein 6 0.584831
RNASET2 ribonuclease T2 0.572823
POU5F1 POU class 5 homeobox 1 0.563335
RERE arginine-glutamic acid dipeptide (RE) repeats 0.501014
IKZF4 IKAROS family zinc finger 4 (Eos) 0.478587
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.473667
IL2RA interleukin 2 receptor, alpha 0.470471
EIF6 eukaryotic translation initiation factor 6 0.470402
SPATA2L spermatogenesis associated 2-like 0.467275
CPNE7 copine VII 0.455587
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.434322
RPGRIP1L RPGRIP1-like 0.43026
UBASH3A ubiquitin associated and SH3 domain containing A 0.411962
NOTCH4 notch 4 0.407185
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.40036
TNXB tenascin XB 0.398814
CEP152 centrosomal protein 152kDa 0.397125
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 0.396025
BNC2 basonuclin 2 0.395511
EGFL8 EGF-like-domain, multiple 8 0.394841
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.394567
GAS8 growth arrest-specific 8 0.393914
ATP8B4 ATPase, class I, type 8B, member 4 0.391594
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 0.386983
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 0.38644
CCHCR1 coiled-coil alpha-helical rod protein 1 0.386325
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 0.38312
ZNF778 zinc finger protein 778 0.381997
ATAT1 alpha tubulin acetyltransferase 1 0.380995
DPCR1 diffuse panbronchiolitis critical region 1 0.380589
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0.380383
SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 0.37841
HCG22 HLA complex group 22 0.377975
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.376847
TRIM15 tripartite motif containing 15 0.375125
TRIM31 tripartite motif containing 31 0.374919
CENPBD1 CENPB DNA-binding domains containing 1 0.374337
TG thyroglobulin 0.372031
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 0.36942
CASP7 caspase 7, apoptosis-related cysteine peptidase 0.367568
TRIM26 tripartite motif containing 26 0.367164
NEU1 sialidase 1 (lysosomal sialidase) 0.367119
FOXP1 forkhead box P1 0.366385
TICAM1 toll-like receptor adaptor molecule 1 0.362254
SMOC2 SPARC related modular calcium binding 2 0.362254
APOE apolipoprotein E 0.357477
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.35372
ZMIZ1 zinc finger, MIZ-type containing 1 0.346142
SLC22A23 solute carrier family 22, member 23 0.340426
NXPH1 neurexophilin 1 0.335772
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 0.33503
NEK6 NIMA-related kinase 6 0.332102
SH2B3 SH2B adaptor protein 3 0.332009
ICA1 islet cell autoantigen 1, 69kDa 0.330814
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 0.330356
ITLN2 intelectin 2 0.329791
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 0.329415
NTM neurotrimin 0.328434
UBE2E2 ubiquitin-conjugating enzyme E2E 2 0.324632
CNTN4 contactin 4 0.318612
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 0.317633
FBN1 fibrillin 1 0.315739
CIB4 calcium and integrin binding family member 4 0.31406
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 0.312767
SRBD1 S1 RNA binding domain 1 0.310842
DOK6 docking protein 6 0.308993
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.304933
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 0.304627
DSC3 desmocollin 3 0.303065
CLYBL citrate lyase beta like 0.300914
PRH1-PRR4 PRH1-PRR4 readthrough 0.298579
SORCS1 sortilin-related VPS10 domain containing receptor 1 0.297681
DOCK4 dedicator of cytokinesis 4 0.297011
GHSR growth hormone secretagogue receptor 0.2947
CSMD1 CUB and Sushi multiple domains 1 0.293281
FAM69C family with sequence similarity 69, member C 0.293015
NCS1 neuronal calcium sensor 1 0.289268
IFIH1 interferon induced with helicase C domain 1 0.274884
ZNRD1-AS1 ZNRD1 antisense RNA 1 0.271852